KEGG DISEASE: Weaver syndrome

KEGG

DISEASE: Weaver syndrome

Entry

H01751                      Disease

Name

Weaver syndrome

Description

Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2, were shown to cause WS.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H01751  Weaver syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H01751  Weaver syndrome

Pathway

Lysine degradation

Network

nt06523 Epigenetic regulation by Polycomb complexes

Gene

EZH2 [HSA:2146] [KO:K11430]

Comment

See also H00718 Sotos syndrome.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S, Rahman N

Title

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Journal

Am J Med Genet A 161A:2972-80 (2013)
DOI:10.1002/ajmg.a.36229

Reference

Authors

Tatton-Brown K, Rahman N

Title

EZH2-Related Overgrowth

Journal

GeneReviews (1993)

LinkDB

» Japanese version

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